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CASE REPORT
Year : 2022  |  Volume : 25  |  Issue : 12  |  Page : 2077-2080

Identification of a novel mutation in ALMS1 in a Chinese patient with monogenic diabetic syndrome by whole-exome sequencing


Department of Endocrinology; Fujian Diabetes Research Institute; Metabolic Diseases Research Institute, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, China

Correspondence Address:
Dr. Sun-Jie Yan
20 Chazhong Road, Taijiang District, Fuzhou - 350 005, Fujian
China
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/njcp.njcp_544_22

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Alstrom syndrome (AS) is one type of monogenic diabetic syndromes caused by mutation in the ALMS1. Due to rare prevalence and overlaps of clinical symptoms, monogenic diabetes is often misdiagnosed. Here, we report a Chinese diabetes patient with poor blood glucose control and insulin resistance. With whole-exome sequencing (WES), this patient was classified into monogenic diabetes and diagnosed as AS with one novel gene mutation identified. This study highlights the clinical application of WES in the diagnosis of monogenic diabetes.


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